BACKGROUND: Ankylosing spondylitis (AS) is a chronic autoimmune disease that involves the imbalance of peripheral tolerance possibly caused by the negative signal of activated T cells. The polymorphisms in the human protein tyrosine phosphatase non-receptor type 22 (PTPN22) gene have been pointed out to be related to the pathogenesis of AS, but conclusions over this issue remain contradictory. We attempted to give a more precise conclusion about the effects of PTPN22 polymorphisms on AS risk by means of a meta-analysis.

MATERIAL AND METHODS: PubMed, Embase, Wanfang, and Chinese National Knowledge Infrastructure (CNKI) were searched for relevant studies published in the English or Chinese language. Odds ratios (ORs) and 95% confidence intervals (95% CIs) were calculated with a fixed- or random-effects model to evaluate the correlation between PTPN22 rs2488457, rs1217414, and rs2476601 polymorphisms and AS susceptibility. Sensitivity analysis was also carried out to detect the stability of the results.

RESULTS: The present meta-analysis showed a positive correlation of both PTPN22 rs2488457 and rs1217414 polymorphisms with AS risk under CC vs. GG, CC + GC vs. GG, CC vs. GC + GG, allele C vs. allele G (OR=1.39, 95% CI=1.04–1.85, P=0.646; OR=1.29, 95% CI=1.03–1.62, P=0.426; OR=1.26, 95% CI=1.02–1.56, P=0.971; OR=1.20, 95% CI=1.05–1.38, P=0.571), and TT vs. CC and TT vs. CT + CC models (OR=3.83, 95% CI=1.11–13.24, P=0.196; OR=3.83, 95% CI=1.09–13.42, P=0.244), respectively.

CONCLUSIONS: PTPN22 rs2488457 and rs1217414 polymorphisms may be risk factors for AS occurrence.

Keywords: Polymorphism, Genetic, Risk, Spondylitis